About Enhancer
| Enhancer ID: | E_00417 |
| Species: | Homo sapiens |
| Position : | chr2:60718043-60725451   |
| Year: | 2013 |
| Title: | An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 24115442 |
| Tissue: | bone marrow |
| Tissue Ontology ID: | UBERON:0002371 |
| Cell Source: | Primary human erythroid precursors/erythroblasts |
| Cell Type: | erythroid progenitor cell |
| Cell Ontology ID: | CL:0000038 |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay, TF binding assay; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | ChIP-seq, RNA-seq; GWAS |
| Low Throughput Method: | Luciferase reporter assay, CRISPR knockout, ChIP-RT-qPCR; In vivo phenotyping |
About Target Gene
| Target gene : | BCL11A |
About TF
| TF name : | GATA1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| GATA1 | C-MYB transcription factor network | pid | 87 |
| GATA1 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| GATA1 | IL3 | netpath | 84 |
| GATA1 | Notch-mediated HES/HEY network | pid | 48 |
| GATA1 | p73 transcription factor network | pid | 80 |
| GATA1 | Signaling events mediated by HDAC Class I | pid | 89 |
| GATA1 | Signaling events mediated by HDAC Class II | pid | 58 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
80 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00132 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00136 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00142 | chr2:60718042-60718186 | blood | erythroid progenitor cell | NA |
| E_00143 | chr2:60718042-60718186 | blood | erythroblast | NA |
| E_00144 | chr2:60718042-60718186 | blood | erythroid progenitor cell | NA |
| E_00145 | chr2:60718042-60718186 | blood | erythroblast | NA |
| E_00239 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00240 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00241 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00242 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00243 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00244 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00245 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00246 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00283 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00284 | chr2:60718042-60718186 | bone marrow | erythroid progenitor cell | NA |
| E_00323 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00324 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00325 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00326 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00327 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00328 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00329 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00330 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00331 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00332 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00333 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00334 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00335 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00336 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00337 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00338 | chr2:60718042-60718186 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00133 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00134 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00138 | chr2:60722238-60722466 | blood | erythroid progenitor cell | NA |
| E_00139 | chr2:60722238-60722466 | blood | erythroblast | NA |
| E_00140 | chr2:60722238-60722466 | blood | erythroid progenitor cell | NA |
| E_00141 | chr2:60722238-60722466 | blood | erythroblast | NA |
| E_00221 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00222 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00223 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00224 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00225 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00226 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00227 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00228 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00229 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00230 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00285 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00286 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | NA |
| E_00287 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00288 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00289 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00290 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00291 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00292 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00293 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00294 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00295 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00296 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00297 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00298 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00299 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00300 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00301 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00302 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00303 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00304 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_00305 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_00306 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01842 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01843 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01848 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01849 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01857 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01858 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01863 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | sickle cell disease |
| E_01864 | chr2:60722238-60722466 | bone marrow / erythroid compartment | erythroid progenitor cell | beta-thalassemia |
| E_01865 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | sickle cell disease |
| E_01866 | chr2:60722238-60722466 | bone marrow | erythroid progenitor cell | beta-thalassemia |
Expression of Target Genes for the Enhancer